Global Roadmap for Sanfilippo Syndrome Therapies Launched


Rare Voices Australia (RVA) congratulates RVA Partner, Sanfilippo Children’s Foundation Australia, for their leading role in the development and delivery of a Global Roadmap for Sanfilippo Syndrome Therapies (Roadmap). This Roadmap was a joint effort with Cure Sanfilippo Foundation (USA) and other international sister foundations. It was developed collaboratively through the expertise of clinicians, researchers, industry leaders, family-led organisations and families from around the globe.

The Roadmap aims to drive research towards effective therapies and better outcomes for families affected by Sanfilippo syndrome. 

The Roadmap on a Page

The pillars of the Roadmap focus on how to STOP Sanfilippo at its root cause, how to TREAT the underlying impact of the disease on the brain and body, and how to better MANAGE symptoms and improve quality of life. The research themes are underpinned by a set of ENABLING INITIATIVES – data, research tools and collaborative platforms – that could support multiple aspects of research along the entire therapy development pipeline.

With the Roadmap in hand, Sanfilippo support organisations from around the world will be coming together to focus attention on their shared priorities.

The Roadmap aligns with the following sections of the National Strategic Action Plan for Rare Diseases (the Action Plan):

  • Critical enabler: State, national and international partnerships. 
  • All four priorities under Pillar 3: Research and Data, of the Action Plan, and in particular Action 3.2.3: Support collaborative research into rare diseases in Australia and internationally.

To read the Roadmap and associated materials please follow the links below:

Global Roadmap for Sanfilippo Syndrome Therapies [PDF]

Global Roadmap for Sanfilippo Syndrome Therapies: Executive Summary [PDF]

The Roadmap on a Page [PDF]

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